Translational Research in Paediatric Rare Diseases Symposium

Led by GOSH - bringing together the UK paediatric rare disease community.A symposium, hosted by Great Ormond Street Hospital's Biomedical Research Centre (GOSH BRC), to bring together the national community of academic/researchers and other stakeholders to share experiences and discuss the unique challenges faced translating research into rare paediatric disorders into patient benefit. A draft programme will be added later this month (September).

Programme:

1.00pm - 1.30pm Registration

1.30pm – 1.40pm Welcome and opening remarks. Professor Thomas Voit - GOSH BRC Director

1.40pm – 2.10pm Making fragile bones stronger Professor Nick Bishop - VP for Science and Research (RCPCH)

2.10pm – 2.30pm Moving to evidence-based patient advocacy: a new model to tackle reimbursement challenges in rare diseases Emily Reuben - CEO Duchenne UK

2.30pm – 3.00pm Dr Karin Straathof - GOSH BRC Junior Faculty Chair introducing lightning talks from future leaders in the paediatric rare diseases community:

CD19 directed CART cell therapy in children Dr Giovanna Lucchini - Locum Consultant Immunologist (GOSH)

Epilepsy and the immune system - a place for new old drugs? Dr Sukhvir Wright - Wellcome Trust Fellow (Aston)

eIF2B bodies as a diagnostic tool for Leukoencephalopathy with Vanishing White Matter Dr Susan Campbell - Senior Lecturer (Sheffield Hallam)

3.00pm – 3.30pm Tea/Coffee and posters in the Williams Lounge

3.30pm – 4.00pm Of spots and stripes - how research is helping rare skin disease Professor Veronica Kinsler - Professor of Paediatric Dermatology and Dermatogenetics

4.00pm – 4.30pm Innovation in trial design and delivery for rare diseases; childhood cancers as an exemplar Professor Pamela Kearns - Director Cancer Research UK Clinical Trials Unit

4.30pm – 5.00pm Panel Discussion

5.00pm – 5.10pm Closing Remarks. Professor Lucy Wedderburn - GOSH BRC Deputy Director

5.10pm – 7.00pm Drinks and canapes in the Williams Lounge

Register here: https://www.eventbrite.co.uk/e/translational-research-in-paediatric-rare-diseases-symposium-tickets-65167969150